Literature DB >> 31901135

Pathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Kouji Fukuyama1, Masashi Fukuzawa2, Takashi Shiroyama1, Motohiro Okada1.   

Abstract

BACKGROUND AND
PURPOSE: The mechanisms causing spontaneous epileptic seizures, including carbamazepine-resistant/zonisamide -sensitive seizures and comorbidity in autosomal dominant sleep-related hypermotor epilepsy (ADSHE) are unclear. This study investigated functional abnormalities in thalamocortical transmission in transgenic rats bearing rat S286L-mutant Chrna4 (S286L-TG) of α4 subunit of the nicotinic ACh receptor (nAChR) that corresponds to the human S284L-mutant CHRNA4. EXPERIMENTAL APPROACH: Effects of carbamazepine and zonisamide on epileptic discharges of S286L-TG rat were measured using telemetry electrocorticogram. Transmission abnormalities of L-glutamate and GABA in thalamocortical pathway of S286L-TG rats were investigated using multiprobe microdialysis and ultra-high-performance liquid-chromatography. KEY
RESULTS: Epileptic discharges in S286L-TG rats were reduced by zonisamide but not by carbamazepine, similar to that of S284L-ADSHE patients. Carbamazepine unaffected functional abnormality in transmission of S286L-TG rats. However, zonisamide was able to compensate for the attenuated S286L-mutant nAChR induced GABA release in frontal-cortex, without affecting attenuated thalamocortical glutamatergic transmission. Excitatory effects of S286L-mutant nAChR on thalamocortical transmission were attenuated compared with those of wild-type nAChR. Loss-of-function of S286L-nAChR enhanced transmission in thalamocortical motor pathway by predominantly attenuating GABAergic transmission. However, it attenuated transmission in thalamocortical cognitive pathway by reducing inhibitory GABAergic and excitatory glutamatergic transmission. CONCLUSION AND IMPLICATIONS: Our results suggest that functional abnormalities of S286L-nAChR are associated with intra-frontal and thalamocortical transmission, possibly contributing to the pathogenesis of ADSHE-seizure and comorbidity of S284L-ADSHE. Selective compensation of impaired GABAergic transmission by zonisamide (but not by carbamazepine) in frontal cortex may be involved, at least partially, in carbamazepine-resistant ADSHE-seizure of S284L-ADSHE patients.
© 2020 The British Pharmacological Society.

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Year:  2020        PMID: 31901135      PMCID: PMC7161548          DOI: 10.1111/bph.14974

Source DB:  PubMed          Journal:  Br J Pharmacol        ISSN: 0007-1188            Impact factor:   8.739


  67 in total

1.  Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.

Authors:  Nobuaki Matsushima; Shinichi Hirose; Hiromi Iwata; Goryu Fukuma; Minako Yonetani; Chiaki Nagayama; Wakako Hamanaka; Yukiko Matsunaka; Masatoshi Ito; Sunao Kaneko; Akihisa Mitsudome; Hiroyuki Sugiyama
Journal:  Epilepsy Res       Date:  2002-02       Impact factor: 3.045

Review 2.  Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.

Authors:  M Ito; K Kobayashi; T Fujii; T Okuno; S Hirose; H Iwata; A Mitsudome; S Kaneko
Journal:  Epilepsia       Date:  2000-01       Impact factor: 5.864

3.  Cessation of gamma activity in the dorsomedial nucleus associated with loss of consciousness during focal seizures.

Authors:  B A Leeman-Markowski; O L Smart; R E Faught; R E Gross; K J Meador
Journal:  Epilepsy Behav       Date:  2015-08-24       Impact factor: 2.937

4.  A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

Authors:  S Hirose; H Iwata; H Akiyoshi; K Kobayashi; M Ito; K Wada; S Kaneko; A Mitsudome
Journal:  Neurology       Date:  1999-11-10       Impact factor: 9.910

5.  Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.

Authors:  I E Scheffer; K P Bhatia; I Lopes-Cendes; D R Fish; C D Marsden; E Andermann; F Andermann; R Desbiens; D Keene; F Cendes
Journal:  Brain       Date:  1995-02       Impact factor: 13.501

6.  Early treatment suppresses the development of spike-wave epilepsy in a rat model.

Authors:  Hal Blumenfeld; Joshua P Klein; Ulrich Schridde; Matthew Vestal; Timothy Rice; Davender S Khera; Chhitij Bashyal; Kathryn Giblin; Crystal Paul-Laughinghouse; Frederick Wang; Anuradha Phadke; John Mission; Ravi K Agarwal; Dario J Englot; Joshua Motelow; Hrachya Nersesyan; Stephen G Waxman; April R Levin
Journal:  Epilepsia       Date:  2007-12-06       Impact factor: 5.864

7.  Topiramate and zonisamide prevent paradoxical intoxication induced by carbamazepine and phenytoin.

Authors:  Satoshi Yamamura; Tatsuya Hamaguchi; Keiko Ohoyama; Yoshihiro Sugiura; Dai Suzuki; Shinich Kanehara; Masanori Nakagawa; Eishi Motomura; Takuya Matsumoto; Hisashi Tanii; Takashi Shiroyama; Motohiro Okada
Journal:  Epilepsy Res       Date:  2009-03-05       Impact factor: 3.045

8.  Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation.

Authors:  Yaroslav Teper; Douglas Whyte; Elizabeth Cahir; Henry A Lester; Sharon R Grady; Michael J Marks; Bruce N Cohen; Carlos Fonck; Tristan McClure-Begley; J Michael McIntosh; Cesar Labarca; Andrew Lawrence; Feng Chen; Ilse Gantois; Philip J Davies; Steven Petrou; Mark Murphy; John Waddington; Malcolm K Horne; Samuel F Berkovic; John Drago
Journal:  J Neurosci       Date:  2007-09-19       Impact factor: 6.167

Review 9.  THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: Ion channels.

Authors:  Stephen P H Alexander; Alistair Mathie; John A Peters; Emma L Veale; Jörg Striessnig; Eamonn Kelly; Jane F Armstrong; Elena Faccenda; Simon D Harding; Adam J Pawson; Joanna L Sharman; Christopher Southan; Jamie A Davies
Journal:  Br J Pharmacol       Date:  2019-12       Impact factor: 8.739

10.  Pathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Authors:  Kouji Fukuyama; Masashi Fukuzawa; Takashi Shiroyama; Motohiro Okada
Journal:  Br J Pharmacol       Date:  2020-02-15       Impact factor: 8.739

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  12 in total

1.  Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.

Authors:  Jing Han; Shui-Bing Liu; Wen Jiang; Yong-Li Jiang; Chang-Geng Song; Hui-Min Zhou; Ban Feng; Jing-Jing Zhao; Yu Liu; Yu-Lin Man
Journal:  J Neurol       Date:  2022-04-29       Impact factor: 6.682

2.  Interaction between Mesocortical and Mesothalamic Catecholaminergic Transmissions Associated with NMDA Receptor in the Locus Coeruleus.

Authors:  Motohiro Okada; Kouji Fukuyama
Journal:  Biomolecules       Date:  2020-07-01

3.  Activation of Astroglial Connexin is Involved in Concentration-Dependent Double-Edged Sword Clinical Action of Clozapine.

Authors:  Kouji Fukuyama; Ruri Okubo; Masahiko Murata; Takashi Shiroyama; Motohiro Okada
Journal:  Cells       Date:  2020-02-11       Impact factor: 6.600

4.  Effects of Subchronic Administrations of Vortioxetine, Lurasidone, and Escitalopram on Thalamocortical Glutamatergic Transmission Associated with Serotonin 5-HT7 Receptor.

Authors:  Motohiro Okada; Ryusuke Matsumoto; Yoshimasa Yamamoto; Kouji Fukuyama
Journal:  Int J Mol Sci       Date:  2021-01-29       Impact factor: 5.923

Review 5.  Astroglial Connexin43 as a Potential Target for a Mood Stabiliser.

Authors:  Motohiro Okada; Tomoka Oka; Misaki Nakamoto; Kouji Fukuyama; Takashi Shiroyama
Journal:  Int J Mol Sci       Date:  2020-12-30       Impact factor: 5.923

6.  Pathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Authors:  Kouji Fukuyama; Masashi Fukuzawa; Takashi Shiroyama; Motohiro Okada
Journal:  Br J Pharmacol       Date:  2020-02-15       Impact factor: 8.739

7.  Effects of Atypical Antipsychotics, Clozapine, Quetiapine and Brexpiprazole on Astroglial Transmission Associated with Connexin43.

Authors:  Kouji Fukuyama; Motohiro Okada
Journal:  Int J Mol Sci       Date:  2021-05-25       Impact factor: 5.923

Review 8.  Candidate Strategies for Development of a Rapid-Acting Antidepressant Class That Does Not Result in Neuropsychiatric Adverse Effects: Prevention of Ketamine-Induced Neuropsychiatric Adverse Reactions.

Authors:  Motohiro Okada; Yasuhiro Kawano; Kouji Fukuyama; Eishi Motomura; Takashi Shiroyama
Journal:  Int J Mol Sci       Date:  2020-10-26       Impact factor: 5.923

Review 9.  A Working Hypothesis Regarding Identical Pathomechanisms between Clinical Efficacy and Adverse Reaction of Clozapine via the Activation of Connexin43.

Authors:  Motohiro Okada; Kouji Fukuyama; Takashi Shiroyama; Masahiko Murata
Journal:  Int J Mol Sci       Date:  2020-09-24       Impact factor: 5.923

10.  Bibliometric analysis of nicotinic acetylcholine receptors channel research (2000-2020).

Authors:  Xueping Zhu; Yan Zhou; Guozhen Yuan; Jingjing Shi; Shuai Shi; Limei Zhang; Ruoning Chai; Yihang Du; Chenglin Duan; Yuanhui Hu
Journal:  Channels (Austin)       Date:  2021-12       Impact factor: 2.581

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